Extractions: Abbreviations used: LAMAN, lysosomal a -mannosidase (EC 3.2.1.24) (the symbol approved by the Human Genome Organization nomenclature committee for the human lysosomal a -mannosidase gene is MANB); RT-PCR, reverse transcriptase PCR; PNGase F, peptide- N N -acetyl- -glucosaminyl)asparagine amidase F (EC 3.5.1.52); endo H, endoglycosidase H (EC 3.2.1.96). To whom correspondence should be addressed. a -Mannosidosis is a lysosomal storage disorder that is caused by the deficiency of lysosomal a -mannosidase. Feline a -mannosidosis is a well-characterized animal model used for studying pathological and therapeutic aspects of lysosomal storage disorders. We here report the purification of feline liver lysosomal a a a a -mannosidosis-affected Persian cat by DNA sequencing of reverse transcriptase PCR products. The deletion resulted in a frame shift from codon 583 and premature termination at codon 645. No lysosomal
Fayette Medical Center Digital Library Alpha mannosidosis Patient/Family Resources. Miscellaneous. Miscellaneous Alphamannosidosis Patient/Family Resources Healthfinder (US DHHS) Homepage http://fayettemc-dl.slis.ua.edu/patientinfo/metabolism/inborn/lysosomalstorage/g
Extractions: Patient/Family Resources by Topic: Metabolic Disorders Alpha Mannosidosis Patient/Family Resources Miscellaneous See also: Canadian MPS Society: Homepage Miscellaneous Alpha Mannosidosis Patient/Family Resources National Library of Medicine MEDLINE plus Health Topics: Index YAHOO - Health:Diseases and Conditions:Metabolic Diseases
Extractions: ISSN: 1432-1076 (electronic version) Table of Contents Abstract Volume 159 Issue 9 (2000) pp 699-703 Received: 15 April 1999 / Accepted: 26 April 2000 Abstract Conclusion Our data indicate that patients with alpha-mannosidosis have an immunodeficiency at both the humoral and cellular level. Key words Article in PDF format (144 KB) Online publication: August 9, 2000
Lab To Web Page we are studying both at biochemical and molecular levels TaySachs disease, Sandhoffdisesase, GM2 gangliosidosis variant AB, a-mannosidosis, b-mannosidosis http://www.krenet.it/biotech/Labtoweb/bmbslab.htm
Extractions: University of Perugia Dr. Tommaso Beccari, Ph.D. (Group Leader) Dr. Carla Emiliani, Ph.D. (Group Leader) Dr. Egidia Costanzi Dr. Brunella Tancini Dr. Cristina Aisa Dr. Sabata Martino Dr. Sofia Stinchi Dr. Simona Mencarelli Dr. Carmen Bertoni Dr. Carmen Bertoni Scientific activity: References:: M.C. Tannoudji, P. Marchard, S. Akli, A.A. Sheardown, J.P. Puech, C. Kress, P. Gressens, M.C. Nassogne, T. Beccari, A. Muggleton-Harris, P. Evrard, J.L. Stirling, l. Poenaru, C. Babinet. DISRUPTION OF THE MURINE HEXA GENE LEADS TO ENZYMETIC DEFICIENCY AND TO NEURONAL LYSOSOMAL STORAGE SIMILAR TO THAT OBSERVED IN TAY-SACHS DISEASE. Mammalian Genome 1995, 6, 844-849 T. Beccari, M.G.Appolloni, J.L. Stirling, and A. Orlacchio ASSIGNMENT OF LYSOSOMAL a-D-MANNOSIDASE TO MOUSE CHROMOSOME 8 Mammalian Genome 7, 1996, 707-708 C. Bertoni, M.G. Appolloni, J.L. Stirling, S.C. Li, Y.T. Li, A. Orlacchio and T. Beccari STRUCTURAL ORGANIZATION AND EXPRESSION OF THE GENE FOR THE MOUSE GM2 ACTIVATOR PROTEIN Mammalian Genome 1997, 8, 90-93
Health Library Int'l Society for mannosidosis and Related Diseases, Inc.mannosidosis, Alpha. InternationalSociety for mannosidosis and Related Diseases-mannosidosis, Alpha. http://hvlib.integris-health.com/Library/HealthGuide/SelfHelp/_SearchResults.asp
Medicalseek - Search Engine For The Healthcare Industry Conditions and Diseases Genetic Disorders mannosidosis. Provides support,education and research on Alpha mannosidosis and other similar disorders. http://www.medicalseek.net/Conditions_and_Diseases_Genetic_Disorders_Mannosidosi
Health Library - Mannosidosis, Alpha Site Search Advanced Search. mannosidosis, Alpha. Self Help Clearinghouse.Int'l Society for mannosidosis and Related Diseases, Inc. http://www.valleyviewregional.org/library/healthguide/SelfHelp/topic.asp?hwid=sh
Extractions: Received: 17 November 1999 Revision requested: 13 December 1999 Revision received: 6 March 2000 Accepted: 9 March 2000 Abstract We report on a case of a deforming arthropathy in a young man with a lysosomal storage disorder. A 31-year-old man with a known diagnosis of mannosidosis presented with a painful swollen right elbow. Radiographs of his right elbow showed a disorganised joint with multiple fragments resembling the appearances of a neuropathic joint. This case provides further evidence that a deforming arthropathy may occur as part of the spectrum of skeletal abnormalities seen in mannosidosis. Key words Article in PDF format (151 KB) Online publication: July 4, 2000
Taryn's World FAQs & Figures In 2001 Taryn's World migrated to its own web domain and became more firmly affiliatedwith the International Society for mannosidosis Related Diseases, an http://www.tarynsworld.org/taryn/tworldfaq.htm
Extractions: the why Taryn's World...and Welcome to It! originally premiered on the Internet as a feature of Rare Genetic Diseases In Children: An Internet Resource Gateway (RGDC.), sponsored by NYU Medical Center , and was intended as a fun and sometimes educational site for special kids . As such, it was meant to be the juvenile counterpart to its parent and host site, RGDC. It was, and still is, intended to demonstrate that we all have our potential, and we all have a need for fun and a safe haven from the apparent random vagaries of nature. Most of all it was designed in tribute to one very special child, Taryn , of whom her sometimes beleaguered Dad is eternally proud. the where In 2001 Taryn's World migrated to its own web domain and became more firmly affiliated with the , an American-based, globally-focused nonprofit organization. Other than this physical relocation of computer files and other non-personal, inanimate electronica, the essence of Taryn's World remains the same. Oh, except that Taryn is now a teenager, in contrast to the age group she belonged when Taryn's World was created; thus, a slight change in tone and sensibility has been added!
Suchmaschine Acoon - Webkatalog Translate this page Top Health Conditions and Diseases Genetic Disorders mannosidosis NORD- mannosidosis Offers alternative names, a general discussion and resources. http://www.acoon.de/cgi-bin/showcat.exe?cat=Top/Health/Conditions_and_Diseases/G
Extractions: Mannosidose is een zeldzame erfelijke en aangeboren stofwisselingsziekte die valt onder de lysosomale stapelingsziekten. Lysosomale stapelingsziekten zijn aandoeningen waarbij er door een verandering in het erfelijk materiaal een stoornis is in de lysosomen. Lysosomen zijn kleine organen (organellen) in een cel, die met behulp van enzymen -enzymen begeleiden chemische reacties- zorgen voor de afbraak en het hergebruik van veel stoffen. Het ontbreken of niet volledig functioneren van een van deze enzymen zorgt ervoor dat (afval)stoffen zich opstapelen in het lysosoom. Deze opeenstapeling is giftig voor de cel en bemoeilijkt daardoor het functioneren van het lysosoom, en uiteindelijk ook van de hele cel. Dit veroorzaakt ten slotte schade in weefsels en organen. Vanwege het ophopen van (afval)stoffen wordt over lysosomale stapelingsziekten gesproken. Bij mannosidose ontstaat er in de lysosomen een opeenstapeling van een bepaald type suikers (oligosacchariden) in verschillende delen van het lichaam, met name in het centraal zenuwstelsel. In geval van mannosidose A wordt dit veroorzaakt door een tekort aan activiteit van het enzym alfa-D-mannosidase, bij mannosidase B is het enzym beta-D-mannosidase de boosdoener. Er bestaan dus twee typen mannosidose.
